ClinVar Miner

Submissions for variant NM_003283.6(TNNT1):c.309+1G>A

gnomAD frequency: 0.00001  dbSNP: rs149559898
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529807 SCV001743911 pathogenic not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001529807 SCV001930736 pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001529807 SCV001957034 pathogenic not provided no assertion criteria provided clinical testing
OMIM RCV003230283 SCV003928016 pathogenic Nemaline myopathy 5 2023-05-31 no assertion criteria provided literature only

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